Canonical Allele Identifier: CA2573159650

Gene: CHM

Linked Data

• ClinVar Variation Id: 1420212
• ClinVar RCV Id: RCV001943490
• dbSNP Id: rs2147675634

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963780_85963781del , CM000685.2:g.85963780_85963781del	GRCh38
NC_000023.10:g.85218785_85218786del , CM000685.1:g.85218785_85218786del	GRCh37
NC_000023.9:g.85105441_85105442del	NCBI36
NG_009874.2:g.88782_88783del , LRG_699:g.88782_88783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.586_587del MANE Select	ENSP00000350386.2:p.Met196GlufsTer2
ENST00000357749.6:c.586_587del	ENSP00000350386.2:p.Met196GlufsTer2
ENST00000467744.2:n.126+63710_126+63711del
NM_000390.2:c.586_587del , LRG_699t1:c.586_587del	NP_000381.1:p.Met196GlufsTer2
XM_006724615.2:c.523_524del	XP_006724678.1:p.Met175GlufsTer2
XM_011530839.1:c.142_143del	XP_011529141.1:p.Met48GlufsTer2
NM_000390.3:c.586_587del	NP_000381.1:p.Met196GlufsTer2
NM_001320959.1:c.142_143del	NP_001307888.1:p.Met48GlufsTer2
NM_001362517.1:c.142_143del	NP_001349446.1:p.Met48GlufsTer2
NM_001362518.1:c.142_143del	NP_001349447.1:p.Met48GlufsTer2
NM_001362519.1:c.142_143del	NP_001349448.1:p.Met48GlufsTer2
XM_017029242.2:c.586_587del	XP_016884731.1:p.Met196GlufsTer2
XM_017029246.1:c.142_143del	XP_016884735.1:p.Met48GlufsTer2
XM_024452331.1:c.142_143del	XP_024308099.1:p.Met48GlufsTer2
NM_000390.4:c.586_587del MANE Select	NP_000381.1:p.Met196GlufsTer2
NM_001362518.2:c.142_143del	NP_001349447.1:p.Met48GlufsTer2